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    題名: A prevalent POLG CAG microsatellite length allele in humans and African great apes.
    作者: 高淑慧
    Rovio ATAbel JAhola ALAndres AMBertranpetit JBlancher A;....Jequier AM;Kao SH;...;Jacobs HT
    貢獻者: 醫學檢驗暨生物技術學系
    日期: 2004
    上傳時間: 2009-10-02 16:52:31 (UTC+8)
    摘要: Abstract
    The human nuclear gene for the catalytic subunit of
    mitochondrial DNA polymerase c (POLG) contains
    within its coding region a CAG microsatellite
    encoding a polyglutamine repeat. Previous studies
    demonstrated an association between length variation
    at this repeat and male infertility, suggesting a
    mechanism whereby the prevalent (CAG)10 allele,
    which occurs at a frequency of >80% in different
    populations, could be maintained by selection.
    Sequence analysis of the POLG CAG microsatellite
    region of more than 1000 human chromosomes
    reveals that virtually all allelic variation at the locus
    is accounted for by length variation of the CAG repeat.
    Analysis of POLG from African great apes
    shows that a prevalent length allele is present in
    each species, although its exact length is speciesspecific.
    In common chimpanzee (Pan troglodytes) a
    number of different sequence variants contribute to
    the prevalent length allele, strongly supporting the
    idea that the length of the POLG microsatellite region,
    rather than its exact nucleotide or amino acid
    sequence, is what is maintained. Analysis of POLG
    in other primates indicates that the repeat has expanded
    from a shorter, glutamine-rich sequence,
    present in the common ancestor of Old and New
    World monkeys.
    關聯: Mamm Genome.(15):492-502.
    資料類型: article
    顯示於類別:[醫學檢驗暨生物技術學系所] 期刊論文

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